{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA044834", "communityStandardTitle": [ "NM_000548.5(TSC2):c.3226G>A (p.Gly1076Arg)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=203163[alleleid]", "alleleId": 203163, "preferredName": "NM_000548.5(TSC2):c.3226G>A (p.Gly1076Arg)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/207742", "RCV": [ "RCV000531095", "RCV000765271", "RCV002321770" ], "variationId": 207742 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/16-2129371-G-A", "id": "16-2129371-G-A", "variant": "16:2129371 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.2129371G>A?assembly=hg19", "id": "chr16:g.2129371G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.2079370G>A?assembly=hg38", "id": "chr16:g.2079370G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/747910305", "rs": 747910305 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-2129371-G-A?dataset=gnomad_r2_1", "id": "16-2129371-G-A", "variant": "16:2129371 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-2079370-G-A?dataset=gnomad_r3", "id": "16-2079370-G-A", "variant": "16:2079370 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-2079370-G-A?dataset=gnomad_r4", "id": "16-2079370-G-A", "variant": "16:2079370 G / A" } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 2079370, "referenceAllele": "G", "start": 2079369 } ], "hgvs": [ "NC_000016.10:g.2079370G>A", "CM000678.2:g.2079370G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 2129371, "referenceAllele": "G", "start": 2129370 } ], "hgvs": [ "NC_000016.9:g.2129371G>A", "CM000678.1:g.2129371G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 2069372, "referenceAllele": "G", "start": 2069371 } ], "hgvs": [ "NC_000016.8:g.2069372G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "A", "end": 35065, "referenceAllele": "G", "start": 35064 } ], "hgvs": [ "NG_005895.1:g.35065G>A", "LRG_487:g.35065G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000437" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 3126, "referenceAllele": "G", "start": 3125 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000568566.6:c.*1644G>A" ], "proteinEffect": { "hgvs": "ENSP00000455997.2:n.*1644G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914316" }, { "coordinates": [ { "allele": "A", "end": 3258, "referenceAllele": "G", "start": 3257 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642206.2:c.3142G>A" ], "proteinEffect": { "hgvs": "ENSP00000495146.2:p.Gly1048Arg", "hgvsWellDefined": "ENSP00000495146.2:p.Gly1048Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS914400" }, { "coordinates": [ { "allele": "A", "end": 3294, "referenceAllele": "G", "start": 3293 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642365.2:c.3223G>A" ], "proteinEffect": { "hgvs": "ENSP00000495459.2:p.Gly1075Arg", "hgvsWellDefined": "ENSP00000495459.2:p.Gly1075Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS914403" }, { "coordinates": [ { "allele": "A", "end": 4330, "referenceAllele": "G", "start": 4329 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644417.2:c.*3675G>A" ], "proteinEffect": { "hgvs": "ENSP00000493912.2:n.*3675G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914414" }, { "coordinates": [ { "allele": "A", "end": 4486, "referenceAllele": "G", "start": 4485 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000646464.2:c.*4148G>A" ], "proteinEffect": { "hgvs": "ENSP00000496610.2:n.*4148G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914421" }, { "coordinates": [ { "allele": "A", "end": 3336, "referenceAllele": "G", "start": 3335 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000219476.9:c.3226G>A" ], "proteinEffect": { "hgvs": "ENSP00000219476.3:p.Gly1076Arg", "hgvsWellDefined": "ENSP00000219476.3:p.Gly1076Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS740437", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000219476.9:c.3226G>A" }, "RefSeq": { "hgvs": "NM_000548.5:c.3226G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000219476.3:p.Gly1076Arg" }, "RefSeq": { "hgvs": "NP_000539.2:p.Gly1076Arg" } } } }, { "coordinates": [ { "allele": "A", "end": 3301, "referenceAllele": "G", "start": 3300 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000350773.9:c.3226G>A" ], "proteinEffect": { "hgvs": "ENSP00000344383.4:p.Gly1076Arg", "hgvsWellDefined": "ENSP00000344383.4:p.Gly1076Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS748446" }, { "coordinates": [ { "allele": "A", "end": 3200, "referenceAllele": "G", "start": 3199 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000401874.7:c.3094G>A" ], "proteinEffect": { "hgvs": "ENSP00000384468.2:p.Gly1032Arg", "hgvsWellDefined": "ENSP00000384468.2:p.Gly1032Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS753982" }, { "coordinates": [ { "allele": "A", "end": 454, "referenceAllele": "G", "start": 453 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000471143.6:c.454G>A" ], "proteinEffect": { "hgvs": "ENSP00000458541.2:n.454G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS757015" }, { "coordinates": [ { "allele": "A", "end": 3195, "referenceAllele": "G", "start": 3194 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000568454.6:c.3127G>A" ], "proteinEffect": { "hgvs": "ENSP00000454487.1:p.Gly1043Arg", "hgvsWellDefined": "ENSP00000454487.1:p.Gly1043Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS760554" }, { "coordinates": [ { "allele": "A", "end": 1880, "referenceAllele": "G", "start": 1879 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642365.1:c.1880G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS766702" }, { "coordinates": [ { "allele": "A", "end": 3149, "referenceAllele": "G", "start": 3148 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642561.1:c.3097G>A" ], "proteinEffect": { "hgvs": "ENSP00000495099.1:p.Gly1033Arg", "hgvsWellDefined": "ENSP00000495099.1:p.Gly1033Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS766811" }, { "coordinates": [ { "allele": "A", "end": 3151, "referenceAllele": "G", "start": 3150 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642797.1:c.3097G>A" ], "proteinEffect": { "hgvs": "ENSP00000493846.1:p.Gly1033Arg", "hgvsWellDefined": "ENSP00000493846.1:p.Gly1033Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS766928" }, { "coordinates": [ { "allele": "A", "end": 3203, "referenceAllele": "G", "start": 3202 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642936.1:c.3094G>A" ], "proteinEffect": { "hgvs": "ENSP00000494514.1:p.Gly1032Arg", "hgvsWellDefined": "ENSP00000494514.1:p.Gly1032Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS766999" }, { "coordinates": [ { "allele": "A", "end": 3212, "referenceAllele": "G", "start": 3211 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000643088.1:c.3094G>A" ], "proteinEffect": { "hgvs": "ENSP00000494747.1:p.Gly1032Arg", "hgvsWellDefined": "ENSP00000494747.1:p.Gly1032Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS767083" }, { "coordinates": [ { "allele": "A", "end": 3344, "referenceAllele": "G", "start": 3343 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000643946.1:c.3226G>A" ], "proteinEffect": { "hgvs": "ENSP00000495927.1:p.Gly1076Arg", "hgvsWellDefined": "ENSP00000495927.1:p.Gly1076Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS767559" }, { "coordinates": [ { "allele": "A", "end": 3151, "referenceAllele": "G", "start": 3150 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644043.1:c.3097G>A" ], "proteinEffect": { "hgvs": "ENSP00000496262.1:p.Gly1033Arg", "hgvsWellDefined": "ENSP00000496262.1:p.Gly1033Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS767603" }, { "coordinates": [ { "allele": "A", "end": 3156, "referenceAllele": "G", "start": 3155 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644329.1:c.3094G>A" ], "proteinEffect": { "hgvs": "ENSP00000496611.1:p.Gly1032Arg", "hgvsWellDefined": "ENSP00000496611.1:p.Gly1032Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS767764" }, { "coordinates": [ { "allele": "A", "end": 3197, "referenceAllele": "G", "start": 3196 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644335.1:c.3097G>A" ], "proteinEffect": { "hgvs": "ENSP00000496317.1:p.Gly1033Arg", "hgvsWellDefined": "ENSP00000496317.1:p.Gly1033Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS767767" }, { "coordinates": [ { "allele": "A", "end": 3216, "referenceAllele": "G", "start": 3215 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644399.1:c.3216G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS767800" }, { "coordinates": [ { "allele": "A", "end": 372, "referenceAllele": "G", "start": 371 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644722.1:n.372G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS767965" }, { "coordinates": [ { "allele": "A", "end": 1379, "referenceAllele": "G", "start": 1378 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000645024.1:n.1379G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS768127" }, { "coordinates": [ { "allele": "A", "end": 3312, "referenceAllele": "G", "start": 3311 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000646388.1:c.3226G>A" ], "proteinEffect": { "hgvs": "ENSP00000495921.1:p.Gly1076Arg", "hgvsWellDefined": "ENSP00000495921.1:p.Gly1076Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS768845" }, { "coordinates": [ { "allele": "A", "end": 2110, "referenceAllele": "G", "start": 2109 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000646634.1:n.2110G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS768983" }, { "coordinates": [ { "allele": "A", "end": 518, "referenceAllele": "G", "start": 517 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000647042.1:n.518G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS769203" }, { "coordinates": [ { "allele": "A", "end": 3856, "referenceAllele": "G", "start": 3855 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000219476.7:c.3226G>A" ], "proteinEffect": { "hgvs": "ENSP00000219476.3:p.Gly1076Arg", "hgvsWellDefined": "ENSP00000219476.3:p.Gly1076Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS247369" }, { "coordinates": [ { "allele": "A", "end": 3301, "referenceAllele": "G", "start": 3300 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000350773.8:c.3226G>A" ], "proteinEffect": { "hgvs": "ENSP00000344383.4:p.Gly1076Arg", "hgvsWellDefined": "ENSP00000344383.4:p.Gly1076Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS246737" }, { "coordinates": [ { "allele": "A", "end": 3045, "referenceAllele": "G", "start": 3044 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000382538.10:c.2950G>A" ], "proteinEffect": { "hgvs": "ENSP00000371978.6:p.Gly984Arg", "hgvsWellDefined": "ENSP00000371978.6:p.Gly984Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS247352" }, { "coordinates": [ { "allele": "A", "end": 3200, "referenceAllele": "G", "start": 3199 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000401874.6:c.3094G>A" ], "proteinEffect": { "hgvs": "ENSP00000384468.2:p.Gly1032Arg", "hgvsWellDefined": "ENSP00000384468.2:p.Gly1032Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS247406" }, { "coordinates": [ { "allele": "A", "end": 2782, "referenceAllele": "G", "start": 2781 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000439117.6:c.*2393G>A" ], "proteinEffect": { "hgvs": "ENSP00000406980.2:n.*2393G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS295266" }, { "coordinates": [ { "allele": "A", "end": 3067, "referenceAllele": "G", "start": 3066 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000439673.6:c.2986G>A" ], "proteinEffect": { "hgvs": "ENSP00000399232.2:p.Gly996Arg", "hgvsWellDefined": "ENSP00000399232.2:p.Gly996Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS247254" }, { "coordinates": [ { "allele": "A", "end": 452, "referenceAllele": "G", "start": 451 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000471143.5:c.452G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS313409" }, { "coordinates": [ { "allele": "A", "end": 466, "referenceAllele": "G", "start": 465 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000483020.5:c.466G>A" ], "proteinEffect": { "hgvs": "ENSP00000460310.1:n.466G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS322585" }, { "coordinates": [ { "allele": "A", "end": 1053, "referenceAllele": "G", "start": 1052 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000497886.5:n.1053G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS334013" }, { "coordinates": [ { "allele": "A", "end": 451, "referenceAllele": "G", "start": 450 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000561695.1:n.451G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS376285" }, { "coordinates": [ { "allele": "A", "end": 583, "referenceAllele": "G", "start": 582 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000568366.5:n.583G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS380732" }, { "coordinates": [ { "allele": "A", "end": 3195, "referenceAllele": "G", "start": 3194 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000568454.5:c.3127G>A" ], "proteinEffect": { "hgvs": "ENSP00000454487.1:p.Gly1043Arg", "hgvsWellDefined": "ENSP00000454487.1:p.Gly1043Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS247412" }, { "@id": "http://reg.genome.network/allele/PA319505", "coordinates": [ { "allele": "A", "end": 3332, "referenceAllele": "G", "start": 3331 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_000548.3:c.3226G>A", "LRG_487t1:c.3226G>A" ], "proteinEffect": { "hgvs": "NP_000539.2:p.Gly1076Arg", "hgvsWellDefined": "NP_000539.2:p.Gly1076Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS006607" }, { "@id": "http://reg.genome.network/allele/PA2825437258", "coordinates": [ { "allele": "A", "end": 3200, "referenceAllele": "G", "start": 3199 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001077183.1:c.3094G>A" ], "proteinEffect": { "hgvs": "NP_001070651.1:p.Gly1032Arg", "hgvsWellDefined": "NP_001070651.1:p.Gly1032Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS009932" }, { "@id": "http://reg.genome.network/allele/PA2825575323", "coordinates": [ { "allele": "A", "end": 3332, "referenceAllele": "G", "start": 3331 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001114382.1:c.3226G>A" ], "proteinEffect": { "hgvs": "NP_001107854.1:p.Gly1076Arg", "hgvsWellDefined": "NP_001107854.1:p.Gly1076Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS011321" }, { "coordinates": [ { "allele": "A", "end": 3184, "referenceAllele": "G", "start": 3183 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_005255529.3:c.3097G>A" ], "proteinEffect": { "hgvs": "XP_005255586.2:p.Gly1033Arg", "hgvsWellDefined": "XP_005255586.2:p.Gly1033Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS060980" }, { "coordinates": [ { "allele": "A", "end": 3184, "referenceAllele": "G", "start": 3183 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_005255531.3:c.3097G>A" ], "proteinEffect": { "hgvs": "XP_005255588.2:p.Gly1033Arg", "hgvsWellDefined": "XP_005255588.2:p.Gly1033Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS060981" }, { "coordinates": [ { "allele": "A", "end": 3313, "referenceAllele": "G", "start": 3312 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522636.1:c.3226G>A" ], "proteinEffect": { "hgvs": "XP_011520938.1:p.Gly1076Arg", "hgvsWellDefined": "XP_011520938.1:p.Gly1076Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS089783" }, { "coordinates": [ { "allele": "A", "end": 3310, "referenceAllele": "G", "start": 3309 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522637.1:c.3223G>A" ], "proteinEffect": { "hgvs": "XP_011520939.1:p.Gly1075Arg", "hgvsWellDefined": "XP_011520939.1:p.Gly1075Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS089784" }, { "coordinates": [ { "allele": "A", "end": 3274, "referenceAllele": "G", "start": 3273 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522638.1:c.3115G>A" ], "proteinEffect": { "hgvs": "XP_011520940.1:p.Gly1039Arg", "hgvsWellDefined": "XP_011520940.1:p.Gly1039Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS089785" }, { "coordinates": [ { "allele": "A", "end": 3184, "referenceAllele": "G", "start": 3183 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522639.1:c.3097G>A" ], "proteinEffect": { "hgvs": "XP_011520941.1:p.Gly1033Arg", "hgvsWellDefined": "XP_011520941.1:p.Gly1033Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS089786" }, { "coordinates": [ { "allele": "A", "end": 3181, "referenceAllele": "G", "start": 3180 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522640.1:c.3094G>A" ], "proteinEffect": { "hgvs": "XP_011520942.1:p.Gly1032Arg", "hgvsWellDefined": "XP_011520942.1:p.Gly1032Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS089787" }, { "coordinates": [ { "allele": "A", "end": 3145, "referenceAllele": "G", "start": 3144 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522641.1:c.2986G>A" ], "proteinEffect": { "hgvs": "XP_011520943.1:p.Gly996Arg", "hgvsWellDefined": "XP_011520943.1:p.Gly996Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS089788" }, { "@id": "http://reg.genome.network/allele/PA319505", "coordinates": [ { "allele": "A", "end": 3426, "referenceAllele": "G", "start": 3425 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_000548.4:c.3226G>A" ], "proteinEffect": { "hgvs": "NP_000539.2:p.Gly1076Arg", "hgvsWellDefined": "NP_000539.2:p.Gly1076Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS510811" }, { "@id": "http://reg.genome.network/allele/PA2825437258", "coordinates": [ { "allele": "A", "end": 3294, "referenceAllele": "G", "start": 3293 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001077183.2:c.3094G>A" ], "proteinEffect": { "hgvs": "NP_001070651.1:p.Gly1032Arg", "hgvsWellDefined": "NP_001070651.1:p.Gly1032Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS511206" }, { "@id": "http://reg.genome.network/allele/PA2825575323", "coordinates": [ { "allele": "A", "end": 3426, "referenceAllele": "G", "start": 3425 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001114382.2:c.3226G>A" ], "proteinEffect": { "hgvs": "NP_001107854.1:p.Gly1076Arg", "hgvsWellDefined": "NP_001107854.1:p.Gly1076Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS511373" }, { "@id": "http://reg.genome.network/allele/PA916022843", "coordinates": [ { "allele": "A", "end": 3186, "referenceAllele": "G", "start": 3185 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318827.1:c.2986G>A" ], "proteinEffect": { "hgvs": "NP_001305756.1:p.Gly996Arg", "hgvsWellDefined": "NP_001305756.1:p.Gly996Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS513062" }, { "@id": "http://reg.genome.network/allele/PA2827008455", "coordinates": [ { "allele": "A", "end": 3130, "referenceAllele": "G", "start": 3129 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318829.1:c.2950G>A" ], "proteinEffect": { "hgvs": "NP_001305758.1:p.Gly984Arg", "hgvsWellDefined": "NP_001305758.1:p.Gly984Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS513064" }, { "@id": "http://reg.genome.network/allele/PA2827014347", "coordinates": [ { "allele": "A", "end": 2920, "referenceAllele": "G", "start": 2919 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318831.1:c.2494G>A" ], "proteinEffect": { "hgvs": "NP_001305760.1:p.Gly832Arg", "hgvsWellDefined": "NP_001305760.1:p.Gly832Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS513066" }, { "@id": "http://reg.genome.network/allele/PA2827018636", "coordinates": [ { "allele": "A", "end": 3195, "referenceAllele": "G", "start": 3194 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318832.1:c.3127G>A" ], "proteinEffect": { "hgvs": "NP_001305761.1:p.Gly1043Arg", "hgvsWellDefined": "NP_001305761.1:p.Gly1043Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS513067" }, { "@id": "http://reg.genome.network/allele/PA2828093053", "coordinates": [ { "allele": "A", "end": 3297, "referenceAllele": "G", "start": 3296 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001363528.1:c.3097G>A" ], "proteinEffect": { "hgvs": "NP_001350457.1:p.Gly1033Arg", "hgvsWellDefined": "NP_001350457.1:p.Gly1033Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS523355" }, { "@id": "http://reg.genome.network/allele/PA2829978367", "coordinates": [ { "allele": "A", "end": 3207, "referenceAllele": "G", "start": 3206 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_021055.2:c.3097G>A" ], "proteinEffect": { "hgvs": "NP_066399.2:p.Gly1033Arg", "hgvsWellDefined": "NP_066399.2:p.Gly1033Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS526032" }, { "coordinates": [ { "allele": "A", "end": 3184, "referenceAllele": "G", "start": 3183 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_005255531.4:c.3097G>A" ], "proteinEffect": { "hgvs": "XP_005255588.2:p.Gly1033Arg", "hgvsWellDefined": "XP_005255588.2:p.Gly1033Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS534295" }, { "coordinates": [ { "allele": "A", "end": 3313, "referenceAllele": "G", "start": 3312 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522636.2:c.3226G>A" ], "proteinEffect": { "hgvs": "XP_011520938.1:p.Gly1076Arg", "hgvsWellDefined": "XP_011520938.1:p.Gly1076Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS546688" }, { "coordinates": [ { "allele": "A", "end": 3310, "referenceAllele": "G", "start": 3309 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522637.2:c.3223G>A" ], "proteinEffect": { "hgvs": "XP_011520939.1:p.Gly1075Arg", "hgvsWellDefined": "XP_011520939.1:p.Gly1075Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS546689" }, { "coordinates": [ { "allele": "A", "end": 3406, "referenceAllele": "G", "start": 3405 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522638.2:c.3388G>A" ], "proteinEffect": { "hgvs": "XP_011520940.2:p.Gly1130Arg", "hgvsWellDefined": "XP_011520940.2:p.Gly1130Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS546690" }, { "coordinates": [ { "allele": "A", "end": 3184, "referenceAllele": "G", "start": 3183 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522639.2:c.3097G>A" ], "proteinEffect": { "hgvs": "XP_011520941.1:p.Gly1033Arg", "hgvsWellDefined": "XP_011520941.1:p.Gly1033Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS546691" }, { "coordinates": [ { "allele": "A", "end": 3181, "referenceAllele": "G", "start": 3180 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522640.2:c.3094G>A" ], "proteinEffect": { "hgvs": "XP_011520942.1:p.Gly1032Arg", "hgvsWellDefined": "XP_011520942.1:p.Gly1032Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS546692" }, { "coordinates": [ { "allele": "A", "end": 3310, "referenceAllele": "G", "start": 3309 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023615.1:c.3223G>A" ], "proteinEffect": { "hgvs": "XP_016879104.1:p.Gly1075Arg", "hgvsWellDefined": "XP_016879104.1:p.Gly1075Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS574348" }, { "coordinates": [ { "allele": "A", "end": 3181, "referenceAllele": "G", "start": 3180 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023616.1:c.3094G>A" ], "proteinEffect": { "hgvs": "XP_016879105.1:p.Gly1032Arg", "hgvsWellDefined": "XP_016879105.1:p.Gly1032Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS574349" }, { "coordinates": [ { "allele": "A", "end": 3277, "referenceAllele": "G", "start": 3276 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023617.1:c.3259G>A" ], "proteinEffect": { "hgvs": "XP_016879106.1:p.Gly1087Arg", "hgvsWellDefined": "XP_016879106.1:p.Gly1087Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS574350" }, { "coordinates": [ { "allele": "A", "end": 3400, "referenceAllele": "G", "start": 3399 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023618.1:c.1882G>A" ], "proteinEffect": { "hgvs": "XP_016879107.1:p.Gly628Arg", "hgvsWellDefined": "XP_016879107.1:p.Gly628Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS574351" }, { "coordinates": [ { "allele": "A", "end": 3181, "referenceAllele": "G", "start": 3180 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_024450413.1:c.3094G>A" ], "proteinEffect": { "hgvs": "XP_024306181.1:p.Gly1032Arg", "hgvsWellDefined": "XP_024306181.1:p.Gly1032Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS583950" }, { "@id": "http://reg.genome.network/allele/PA319505", "coordinates": [ { "allele": "A", "end": 3336, "referenceAllele": "G", "start": 3335 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_000548.5:c.3226G>A" ], "proteinEffect": { "hgvs": "NP_000539.2:p.Gly1076Arg", "hgvsWellDefined": "NP_000539.2:p.Gly1076Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS662483", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000219476.9:c.3226G>A" }, "RefSeq": { "hgvs": "NM_000548.5:c.3226G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000219476.3:p.Gly1076Arg" }, "RefSeq": { "hgvs": "NP_000539.2:p.Gly1076Arg" } } } }, { "@id": "http://reg.genome.network/allele/PA2828413163", "coordinates": [ { "allele": "A", "end": 3204, "referenceAllele": "G", "start": 3203 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001370404.1:c.3094G>A" ], "proteinEffect": { "hgvs": "NP_001357333.1:p.Gly1032Arg", "hgvsWellDefined": "NP_001357333.1:p.Gly1032Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS692408" }, { "@id": "http://reg.genome.network/allele/PA2828419301", "coordinates": [ { "allele": "A", "end": 3207, "referenceAllele": "G", "start": 3206 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001370405.1:c.3097G>A" ], "proteinEffect": { "hgvs": "NP_001357334.1:p.Gly1033Arg", "hgvsWellDefined": "NP_001357334.1:p.Gly1033Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS692409" }, { "@id": "http://reg.genome.network/allele/PA2825437258", "coordinates": [ { "allele": "A", "end": 3204, "referenceAllele": "G", "start": 3203 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001077183.3:c.3094G>A" ], "proteinEffect": { "hgvs": "NP_001070651.1:p.Gly1032Arg", "hgvsWellDefined": "NP_001070651.1:p.Gly1032Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS711749" }, { "@id": "http://reg.genome.network/allele/PA2825575323", "coordinates": [ { "allele": "A", "end": 3336, "referenceAllele": "G", "start": 3335 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001114382.3:c.3226G>A" ], "proteinEffect": { "hgvs": "NP_001107854.1:p.Gly1076Arg", "hgvsWellDefined": "NP_001107854.1:p.Gly1076Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS712126" }, { "@id": "http://reg.genome.network/allele/PA916022843", "coordinates": [ { "allele": "A", "end": 3096, "referenceAllele": "G", "start": 3095 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318827.2:c.2986G>A" ], "proteinEffect": { "hgvs": "NP_001305756.1:p.Gly996Arg", "hgvsWellDefined": "NP_001305756.1:p.Gly996Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS717605" }, { "@id": "http://reg.genome.network/allele/PA2827008455", "coordinates": [ { "allele": "A", "end": 3040, "referenceAllele": "G", "start": 3039 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318829.2:c.2950G>A" ], "proteinEffect": { "hgvs": "NP_001305758.1:p.Gly984Arg", "hgvsWellDefined": "NP_001305758.1:p.Gly984Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS717607" }, { "@id": "http://reg.genome.network/allele/PA2827014347", "coordinates": [ { "allele": "A", "end": 2830, "referenceAllele": "G", "start": 2829 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318831.2:c.2494G>A" ], "proteinEffect": { "hgvs": "NP_001305760.1:p.Gly832Arg", "hgvsWellDefined": "NP_001305760.1:p.Gly832Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS717609" }, { "@id": "http://reg.genome.network/allele/PA2827018636", "coordinates": [ { "allele": "A", "end": 3195, "referenceAllele": "G", "start": 3194 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318832.2:c.3127G>A" ], "proteinEffect": { "hgvs": "NP_001305761.1:p.Gly1043Arg", "hgvsWellDefined": "NP_001305761.1:p.Gly1043Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS717610" }, { "@id": "http://reg.genome.network/allele/PA2828093053", "coordinates": [ { "allele": "A", "end": 3207, "referenceAllele": "G", "start": 3206 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001363528.2:c.3097G>A" ], "proteinEffect": { "hgvs": "NP_001350457.1:p.Gly1033Arg", "hgvsWellDefined": "NP_001350457.1:p.Gly1033Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS720739" }, { "@id": "http://reg.genome.network/allele/PA2829978367", "coordinates": [ { "allele": "A", "end": 3207, "referenceAllele": "G", "start": 3206 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_021055.3:c.3097G>A" ], "proteinEffect": { "hgvs": "NP_066399.2:p.Gly1033Arg", "hgvsWellDefined": "NP_066399.2:p.Gly1033Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS728502" } ], "type": "nucleotide" }